Incidental Mutation 'R4629:Tmtc2'
ID 349060
Institutional Source Beutler Lab
Gene Symbol Tmtc2
Ensembl Gene ENSMUSG00000036019
Gene Name transmembrane and tetratricopeptide repeat containing 2
Synonyms 8430438D04Rik, D330034A10Rik
MMRRC Submission 041894-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R4629 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 105023524-105410312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105139511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 672 (S672T)
Ref Sequence ENSEMBL: ENSMUSP00000061919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061506]
AlphaFold Q56A06
Predicted Effect probably benign
Transcript: ENSMUST00000061506
AA Change: S672T

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000061919
Gene: ENSMUSG00000036019
AA Change: S672T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 223 245 N/A INTRINSIC
Pfam:DUF1736 247 321 7.3e-33 PFAM
transmembrane domain 393 415 N/A INTRINSIC
transmembrane domain 425 444 N/A INTRINSIC
TPR 493 526 1.6e-3 SMART
TPR 527 560 6.84e-3 SMART
TPR 561 594 2.52e-1 SMART
TPR 606 639 3.12e-6 SMART
TPR 643 676 3.99e1 SMART
TPR 677 710 7.12e-1 SMART
low complexity region 729 739 N/A INTRINSIC
TPR 745 778 1.51e1 SMART
TPR 779 812 1.43e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143691
Meta Mutation Damage Score 0.1147 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik T C 9: 114,108,419 (GRCm39) noncoding transcript Het
Abca6 T C 11: 110,121,375 (GRCm39) probably null Het
Adam22 A G 5: 8,282,663 (GRCm39) S111P possibly damaging Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Alg10b C T 15: 90,111,948 (GRCm39) A264V probably benign Het
Angpt1 T A 15: 42,301,796 (GRCm39) Y404F probably benign Het
Apol7c A G 15: 77,410,595 (GRCm39) F117S probably damaging Het
Asic5 T A 3: 81,913,811 (GRCm39) Y162N probably damaging Het
Cacna2d2 A T 9: 107,404,521 (GRCm39) E1104V probably damaging Het
Cad G A 5: 31,227,639 (GRCm39) V1263I probably damaging Het
Cdc20 T C 4: 118,290,761 (GRCm39) E413G probably damaging Het
Cfap46 A T 7: 139,260,843 (GRCm39) L85Q probably damaging Het
Cnot6l A G 5: 96,225,070 (GRCm39) V541A probably benign Het
Cubn T A 2: 13,318,790 (GRCm39) probably null Het
Cx3cr1 T C 9: 119,880,730 (GRCm39) N224S probably damaging Het
Fam98c T C 7: 28,854,693 (GRCm39) T49A possibly damaging Het
Fez2 C T 17: 78,710,183 (GRCm39) S202N probably benign Het
Fras1 A G 5: 96,924,593 (GRCm39) N3678S probably benign Het
Glyr1 A G 16: 4,854,907 (GRCm39) V57A possibly damaging Het
Gm5617 T A 9: 48,407,187 (GRCm39) L107Q possibly damaging Het
Gpnmb A G 6: 49,027,994 (GRCm39) D401G possibly damaging Het
Gtpbp6 C A 5: 110,254,774 (GRCm39) V100L possibly damaging Het
Gucy1a1 A G 3: 82,004,931 (GRCm39) V618A probably damaging Het
H6pd A T 4: 150,080,803 (GRCm39) M14K probably benign Het
Hectd4 A G 5: 121,435,266 (GRCm39) M993V probably benign Het
Kat14 A G 2: 144,246,140 (GRCm39) probably benign Het
Kctd21 A G 7: 96,996,782 (GRCm39) D85G probably damaging Het
Kera A G 10: 97,445,493 (GRCm39) N284S probably benign Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lama1 A G 17: 68,112,355 (GRCm39) probably null Het
Lgr6 T C 1: 135,032,670 (GRCm39) Y70C probably damaging Het
Lipg T A 18: 75,081,107 (GRCm39) K325* probably null Het
Lrrc43 T C 5: 123,637,583 (GRCm39) L250P probably damaging Het
Lyz1 C T 10: 117,127,041 (GRCm39) R65H probably benign Het
Marchf10 T A 11: 105,280,664 (GRCm39) L540F probably benign Het
Maz G T 7: 126,624,519 (GRCm39) H334N possibly damaging Het
Myh1 A G 11: 67,100,119 (GRCm39) K646R probably benign Het
Nf2 A T 11: 4,798,915 (GRCm39) V24E probably damaging Het
Nup210l T C 3: 90,075,182 (GRCm39) S831P probably benign Het
Nup210l C T 3: 90,098,181 (GRCm39) R1378* probably null Het
Or13a17 T A 7: 140,271,291 (GRCm39) S158T probably benign Het
Orc5 G T 5: 22,753,003 (GRCm39) F10L probably benign Het
Palb2 A C 7: 121,727,189 (GRCm39) I227S possibly damaging Het
Pate3 A T 9: 35,557,453 (GRCm39) C68S probably damaging Het
Pcdha12 T A 18: 37,154,926 (GRCm39) N548K probably damaging Het
Prdm10 C T 9: 31,248,612 (GRCm39) Q345* probably null Het
Ptx4 A T 17: 25,341,737 (GRCm39) N71Y probably damaging Het
Rab42 C T 4: 132,030,548 (GRCm39) R34Q probably benign Het
Rergl A G 6: 139,478,850 (GRCm39) V8A probably damaging Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Rpia A G 6: 70,743,578 (GRCm39) M291T possibly damaging Het
Rplp0 G A 5: 115,699,482 (GRCm39) probably null Het
Rrp12 A T 19: 41,871,955 (GRCm39) I443N probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Saxo1 T C 4: 86,406,064 (GRCm39) Y45C probably damaging Het
Sec24a A T 11: 51,612,640 (GRCm39) probably null Het
Setdb2 A G 14: 59,646,808 (GRCm39) V585A probably benign Het
Sik1 T C 17: 32,068,581 (GRCm39) E347G probably benign Het
Srbd1 T C 17: 86,428,100 (GRCm39) T378A probably damaging Het
Tacr1 A G 6: 82,380,861 (GRCm39) T91A probably benign Het
Tas2r135 T A 6: 42,383,160 (GRCm39) M233K probably benign Het
Tfg A T 16: 56,533,039 (GRCm39) M40K probably damaging Het
Tmem35b C T 4: 127,022,796 (GRCm39) P133S probably benign Het
Trpv3 A T 11: 73,172,615 (GRCm39) K253N probably damaging Het
Ube2c A G 2: 164,614,093 (GRCm39) N143S possibly damaging Het
Unc13a A G 8: 72,106,097 (GRCm39) M669T possibly damaging Het
Vmn1r61 T A 7: 5,614,249 (GRCm39) I22F probably benign Het
Vmn2r26 A T 6: 124,038,150 (GRCm39) Q575L possibly damaging Het
Vmn2r81 A T 10: 79,103,276 (GRCm39) E156D probably damaging Het
Vwa3a T A 7: 120,392,598 (GRCm39) N812K probably benign Het
Wasl T C 6: 24,637,680 (GRCm39) R71G probably damaging Het
Wdfy4 A T 14: 32,824,515 (GRCm39) N1301K probably damaging Het
Zfp827 G A 8: 79,787,011 (GRCm39) R59Q probably damaging Het
Zfp87 A G 13: 74,520,512 (GRCm39) C189R probably damaging Het
Other mutations in Tmtc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Tmtc2 APN 10 105,157,307 (GRCm39) missense possibly damaging 0.82
IGL01284:Tmtc2 APN 10 105,107,372 (GRCm39) missense possibly damaging 0.56
IGL01317:Tmtc2 APN 10 105,249,646 (GRCm39) missense probably damaging 1.00
IGL01327:Tmtc2 APN 10 105,184,340 (GRCm39) missense probably benign 0.15
IGL01637:Tmtc2 APN 10 105,205,946 (GRCm39) missense probably benign 0.00
IGL02176:Tmtc2 APN 10 105,184,354 (GRCm39) missense probably benign 0.00
IGL02354:Tmtc2 APN 10 105,107,387 (GRCm39) missense probably benign 0.00
IGL02361:Tmtc2 APN 10 105,107,387 (GRCm39) missense probably benign 0.00
IGL02514:Tmtc2 APN 10 105,025,960 (GRCm39) missense possibly damaging 0.94
IGL02540:Tmtc2 APN 10 105,249,200 (GRCm39) missense probably benign 0.45
IGL02625:Tmtc2 APN 10 105,206,407 (GRCm39) missense probably damaging 1.00
IGL02938:Tmtc2 APN 10 105,249,157 (GRCm39) missense probably damaging 1.00
IGL02939:Tmtc2 APN 10 105,206,411 (GRCm39) missense probably damaging 1.00
IGL03388:Tmtc2 APN 10 105,157,344 (GRCm39) splice site probably benign
PIT4402001:Tmtc2 UTSW 10 105,249,268 (GRCm39) missense probably damaging 1.00
PIT4449001:Tmtc2 UTSW 10 105,139,465 (GRCm39) missense probably damaging 1.00
R1424:Tmtc2 UTSW 10 105,249,229 (GRCm39) missense probably benign 0.00
R1462:Tmtc2 UTSW 10 105,409,566 (GRCm39) nonsense probably null
R1462:Tmtc2 UTSW 10 105,409,566 (GRCm39) nonsense probably null
R1529:Tmtc2 UTSW 10 105,139,519 (GRCm39) missense probably damaging 1.00
R1903:Tmtc2 UTSW 10 105,025,969 (GRCm39) missense probably benign 0.00
R2225:Tmtc2 UTSW 10 105,206,218 (GRCm39) missense probably benign 0.22
R4280:Tmtc2 UTSW 10 105,184,294 (GRCm39) critical splice donor site probably null
R4602:Tmtc2 UTSW 10 105,249,391 (GRCm39) missense probably benign
R4603:Tmtc2 UTSW 10 105,249,391 (GRCm39) missense probably benign
R4624:Tmtc2 UTSW 10 105,139,511 (GRCm39) missense probably benign 0.04
R4625:Tmtc2 UTSW 10 105,139,511 (GRCm39) missense probably benign 0.04
R4628:Tmtc2 UTSW 10 105,139,511 (GRCm39) missense probably benign 0.04
R5192:Tmtc2 UTSW 10 105,026,038 (GRCm39) missense probably damaging 1.00
R5769:Tmtc2 UTSW 10 105,205,907 (GRCm39) missense probably benign 0.00
R5846:Tmtc2 UTSW 10 105,107,302 (GRCm39) intron probably benign
R5892:Tmtc2 UTSW 10 105,249,366 (GRCm39) missense probably benign 0.08
R5897:Tmtc2 UTSW 10 105,249,459 (GRCm39) missense probably damaging 1.00
R6362:Tmtc2 UTSW 10 105,205,831 (GRCm39) missense probably damaging 1.00
R6391:Tmtc2 UTSW 10 105,409,551 (GRCm39) missense probably benign 0.06
R6640:Tmtc2 UTSW 10 105,409,610 (GRCm39) start codon destroyed probably benign 0.01
R6812:Tmtc2 UTSW 10 105,249,130 (GRCm39) missense probably benign 0.01
R6975:Tmtc2 UTSW 10 105,158,863 (GRCm39) missense probably benign 0.01
R7042:Tmtc2 UTSW 10 105,206,477 (GRCm39) missense probably damaging 1.00
R7063:Tmtc2 UTSW 10 105,184,386 (GRCm39) missense probably damaging 1.00
R7211:Tmtc2 UTSW 10 105,409,587 (GRCm39) missense probably benign 0.31
R7288:Tmtc2 UTSW 10 105,249,469 (GRCm39) missense probably damaging 1.00
R7576:Tmtc2 UTSW 10 105,206,482 (GRCm39) missense probably damaging 1.00
R7728:Tmtc2 UTSW 10 105,107,358 (GRCm39) critical splice donor site probably null
R7850:Tmtc2 UTSW 10 105,409,568 (GRCm39) missense probably benign 0.01
R8024:Tmtc2 UTSW 10 105,025,987 (GRCm39) missense probably benign 0.37
R8417:Tmtc2 UTSW 10 105,249,097 (GRCm39) missense probably damaging 0.98
R8697:Tmtc2 UTSW 10 105,205,831 (GRCm39) missense probably damaging 1.00
R8913:Tmtc2 UTSW 10 105,158,887 (GRCm39) missense probably damaging 1.00
R9409:Tmtc2 UTSW 10 105,159,419 (GRCm39) missense probably damaging 1.00
R9782:Tmtc2 UTSW 10 105,026,062 (GRCm39) missense probably damaging 1.00
Z1176:Tmtc2 UTSW 10 105,139,483 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCTGTTTAGGCCTCTAACAGG -3'
(R):5'- GCCAGGTGTATCTCCCTTATGG -3'

Sequencing Primer
(F):5'- ACAGGATTGTTATCATTCATCAAGTG -3'
(R):5'- GATTCTCTCCTGATGAAATTTCCAG -3'
Posted On 2015-10-08